Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Daniel N FrankArnaud P J GieseLena HafrenTori C BootpetchTalitha Karisse L YarzaMatthew J SteritzMelquiadesa PedroPatrick John LabraKathleen A DalyMa Leah C TantocoWasyl SzeremetaMaria Rina T Reyes-QuintosNiaz AhankoobErasmo Gonzalo D V LlanesHarold S PineSairah YousafDiana IrElisabet EinarsdottirRhodieleen Anne R de la CruzNanette R LeeRachelle Marie A NonatoCharles E RobertsonKimberly Mae C OngJose Pedrito M MagnoAlessandra Nadine E ChiongMa Carmina Espiritu-ChiongMaria Luz San AgustinTeresa Luisa G CruzGeneroso T AbesMichael J BamshadEva Maria Cutiongco-de la PazJuha KereDeborah A NickersonKaren L MohlkeSaima RiazuddinAbner ChanPetri S MattilaSuzanne M LealAllen F RyanZubair M AhmedTasnee ChonmaitreeMichele M SaleCharlotte M ChiongRegie Lyn P Santos-CortezPublished in: Journal of medical genetics (2020)
SPINK5 variants confer susceptibility to non-syndromic OM. These variants potentially contribute to middle ear pathology through breakdown of mucosal and epithelial barriers, immunodeficiency such as poor vaccination response, alteration of head and neck microbiota and facilitation of entry of opportunistic pathogens into the middle ear.